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Sunday, 28 February 2016

Rare Disease Day: Alicia and RTS

For part two, we're lucky to have a guest blogger! Thanks to Alicia for sharing about having a child with a rare disease. (For part one, see yesterday's post).

"Happy Rare Disease day! My
family is all too familiar to this day because my 3 year old son,
Anderson has a rare syndrome called Rubinstein Taybi Syndrome (RTS). The
occurrence of RTS is 1 in 125 000 - 300 000 and for 90% of individuals with
RTS, the genes associated are written wrong. However, in my son’s
case, and for the other 10% of the RTS population, he is completely missing
the RTS gene making him rarer than one in a million. That makes us
genetic lottery winners.

There's this stare that happens whenever I tell people of my son's syndrome. Anyone
who has a loved one with a rare disease has experienced the blank
stare. No one knows what to say. It's much worse when it comes to situations, like I experienced last night, when I
brought my feverish, snotty child to an after hours clinic and told the
doctor his syndrome, to meet the blank stare. I don’t expect every
physician to know about this rare disease but it is a little nerve
wracking to see that face then have them prescribe medications
that they think will be best for Anderson.

We try to avoid after hours clinics for this
reason but it’s sometimes unavoidable. I find myself having to become the educator. I’ve
learnt to be brief and only discuss what is necessary for that moment. I
direct his care from explaining his anatomic differences that contribute
to his symptoms, to the usual progression of illness, to the drugs that
work and do not in this situation. Sometimes the doctors look like they are
going to vomit because they don’t know anything about this disease I
just enlightened them with. This is followed by them leaving the room to
“check medication dosages” but, let's be real, they are googling his
syndrome. We have left the room before and seen it on the desktop. This
actually gives me a bit of comfort, at least they are doing their
homework.

With
something so rare, there isn’t much research to guide his care. The
research that does exist is dated and standards of care vary from
country to country. We have tried google but that can be very scary.
Have you ever googled a car crash? It never pops up as the cutest little
fender bender you have ever seen, it’s always the fatal crashes Google
chooses to show you. The same theory goes when googling RTS or any
medical conditions. Therefore, we rely heavily on our RTS support group
through Facebook. Any questions that arises, we ask the hundreds of
families and get responses from around the world. Without social
networking we would be lost. Our support group has also given us hope
for our future. Research painted us a grim picture. Our RTS family has
helped us surpass the research expectations of simply living past one
year old and communicating through sign language.

Having
a child with a rare disease has helped us let him set his own pace. He
will never follow the public health standard, which is fine by me. RTS
is an enormous part of our lives. It has changed us. It has made us
patient and excellent at coping with unknowns since that is what we are
constantly living. My rare gem has many RTS traits but he is also a son
who wants hugs and cuddles. He is a toddler who won’t stop bugging you
until you turn on his favourite cartoon. He is an annoying little
brother who pulls on his sister’s hair just to laugh at her reaction. He
has a sweet tooth like his dad, only wanting feeding therapy when icing
is involved. And he doesn’t think twice to wrestle his baby brother
when his favourite toy gets ripped out of his hands. He is one of a
kind, but aren’t we all? He just helps us frighten doctors more than our
other children!"